ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2976+5G>A

gnomAD frequency: 0.00001  dbSNP: rs748710535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001615374 SCV001832593 uncertain significance Fanconi anemia criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001780416 SCV002017712 likely pathogenic Fanconi anemia complementation group D2 2021-06-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821924 SCV002070587 likely benign not specified 2021-06-07 criteria provided, single submitter clinical testing

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